Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154191661G>C | CA2695106910 | OPN1MW | c.579-27G>C (n.579-27G>C) n.588+1439G>C c.166-27G>C | gnomAD v4 |
X | g.154191667del | CA2739242254 | OPN1MW | c.579-21del (n.579-21del) n.588+1445del c.166-21del | dbSNP |
X | g.154191667G>C | CA2695106911 | OPN1MW | c.579-21G>C (n.579-21G>C) n.588+1445G>C c.166-21G>C | gnomAD v4 |
X | g.154191670G>C | CA2466617963 | OPN1MW | c.579-18G>C (n.579-18G>C) n.588+1448G>C c.166-18G>C | dbSNP |
X | g.154191670G= | CA2466617962 | OPN1MW | c.579-18G= (n.579-18G=) n.588+1448G= c.166-18G= | |
X | g.154191672C= | CA2466617964 | OPN1MW | c.579-16C= (n.579-16C=) n.588+1450C= c.166-16C= | |
X | g.154191672C>T | CA873298043 | OPN1MW | c.579-16C>T (n.579-16C>T) n.588+1450C>T c.166-16C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.154191673G>A | CA2695106912 | OPN1MW | c.579-15G>A (n.579-15G>A) n.588+1451G>A c.166-15G>A | gnomAD v4 |
X | g.154191673G>T | CA1138562338 | OPN1MW | c.579-15G>T (n.579-15G>T) n.588+1451G>T c.166-15G>T | gnomAD v3 gnomAD v4 |
X | g.154191674G>A | CA1138562339 | OPN1MW | c.579-14G>A (n.579-14G>A) n.588+1452G>A c.166-14G>A | gnomAD v3 gnomAD v4 |
X | g.154191683T>C | CA2526450841 | OPN1MW | c.579-5T>C (n.579-5T>C) n.588+1461T>C c.166-5T>C | |
X | g.154191686A>C | CA415314617 | OPN1MW | c.579-2A>C (n.579-2A>C) n.588+1464A>C c.166-2A>C | |
X | g.154191686A>G | CA415314616 | OPN1MW | c.579-2A>G (n.579-2A>G) n.588+1464A>G c.166-2A>G | |
X | g.154191686A>T | CA415314615 | OPN1MW | c.579-2A>T (n.579-2A>T) n.588+1464A>T c.166-2A>T | |
X | g.154191687G>A | CA415314618 | OPN1MW | c.579-1G>A (n.579-1G>A) n.588+1465G>A c.166-1G>A | |
X | g.154191687G>C | CA415314620 | OPN1MW | c.579-1G>C (n.579-1G>C) n.588+1465G>C c.166-1G>C | gnomAD v4 |
X | g.154191687G>T | CA415314619 | OPN1MW | c.579-1G>T (n.579-1G>T) n.588+1465G>T c.166-1G>T | |
X | g.154191688G>A | CA519334727 | OPN1MW | c.579G>A (p.Arg193=) n.588+1466G>A c.166G>A | |
X | g.154191688G>C | CA415314621 | OPN1MW | c.579G>C (p.Arg193Ser) n.588+1466G>C c.166G>C | |
X | g.154191688G>T | CA415314622 | OPN1MW | c.579G>T (p.Arg193Ser) n.588+1466G>T c.166G>T | |
X | g.154191689T>A | CA415314623 | OPN1MW | c.580T>A (p.Tyr194Asn) n.588+1467T>A c.167T>A | |
X | g.154191689T>C | CA415314625 | OPN1MW | c.580T>C (p.Tyr194His) n.588+1467T>C c.167T>C | |
X | g.154191689T>G | CA415314624 | OPN1MW | c.580T>G (p.Tyr194Asp) n.588+1467T>G c.167T>G | |
X | g.154191690A>C | CA415314626 | OPN1MW | c.581A>C (p.Tyr194Ser) n.588+1468A>C c.168A>C | |
X | g.154191690A>G | CA415314627 | OPN1MW | c.581A>G (p.Tyr194Cys) n.588+1468A>G c.168A>G | |
X | g.154191690A>T | CA415314628 | OPN1MW | c.581A>T (p.Tyr194Phe) n.588+1468A>T c.168A>T | |
X | g.154191691C>A | CA415314629 | OPN1MW | c.582C>A (p.Tyr194Ter) n.588+1469C>A c.169C>A | |
X | g.154191691C>G | CA415314630 | OPN1MW | c.582C>G (p.Tyr194Ter) n.588+1469C>G c.169C>G | |
X | g.154191691C>T | CA519334738 | OPN1MW | c.582C>T (p.Tyr194=) n.588+1469C>T c.169C>T | |
X | g.154191692T>A | CA415314633 | OPN1MW | c.583T>A (p.Trp195Arg) n.588+1470T>A c.170T>A | |
X | g.154191692T>C | CA415314632 | OPN1MW | c.583T>C (p.Trp195Arg) n.588+1470T>C c.170T>C | gnomAD v4 |
X | g.154191692T>G | CA415314631 | OPN1MW | c.583T>G (p.Trp195Gly) n.588+1470T>G c.170T>G | |
X | g.154191693G>A | CA415314634 | OPN1MW | c.584G>A (p.Trp195Ter) n.588+1471G>A c.171G>A | |
X | g.154191693G>C | CA415314635 | OPN1MW | c.584G>C (p.Trp195Ser) n.588+1471G>C c.171G>C | |
X | g.154191693G>T | CA415314636 | OPN1MW | c.584G>T (p.Trp195Leu) n.588+1471G>T c.171G>T | |
X | g.154191694G>A | CA415314637 | OPN1MW | c.585G>A (p.Trp195Ter) n.588+1472G>A c.172G>A | |
X | g.154191694G>C | CA415314638 | OPN1MW | c.585G>C (p.Trp195Cys) n.588+1472G>C c.172G>C | |
X | g.154191694G>T | CA415314639 | OPN1MW | c.585G>T (p.Trp195Cys) n.588+1472G>T c.172G>T | |
X | g.154191695C>A | CA415314640 | OPN1MW | c.586C>A (p.Pro196Thr) n.588+1473C>A c.173C>A | |
X | g.154191695C>G | CA415314642 | OPN1MW | c.586C>G (p.Pro196Ala) n.588+1473C>G c.173C>G | |
X | g.154191695C>T | CA415314641 | OPN1MW | c.586C>T (p.Pro196Ser) n.588+1473C>T c.173C>T | |
X | g.154191696C>A | CA415314643 | OPN1MW | c.587C>A (p.Pro196His) n.588+1474C>A c.174C>A | |
X | g.154191696C>G | CA415314644 | OPN1MW | c.587C>G (p.Pro196Arg) n.588+1474C>G c.174C>G | |
X | g.154191696C>T | CA415314645 | OPN1MW | c.587C>T (p.Pro196Leu) n.588+1474C>T c.174C>T | |
X | g.154191697C>A | CA519334756 | OPN1MW | c.588C>A (p.Pro196=) n.588+1475C>A c.175C>A | |
X | g.154191697C>G | CA519334758 | OPN1MW | c.588C>G (p.Pro196=) n.588+1475C>G c.175C>G | |
X | g.154191697C>T | CA519334760 | OPN1MW | c.588C>T (p.Pro196=) n.588+1475C>T c.175C>T | |
X | g.154191698C>A | CA415314646 | OPN1MW | c.589C>A (p.His197Asn) n.588+1476C>A c.176C>A | |
X | g.154191698C>G | CA415314647 | OPN1MW | c.589C>G (p.His197Asp) n.588+1476C>G c.176C>G | |
X | g.154191698C>T | CA415314648 | OPN1MW | c.589C>T (p.His197Tyr) n.588+1476C>T c.176C>T |